MYP23
MCID: MYP074
MIFTS: 20

Myopia 23, Autosomal Recessive (MYP23)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopia 23, Autosomal Recessive

MalaCards integrated aliases for Myopia 23, Autosomal Recessive:

Name: Myopia 23, Autosomal Recessive 56 73 29 6 71
Myp23 56 73
Myopia, Type 23, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
myopia 23, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 615431
OMIM Phenotypic Series 56 PS160700
MeSH 43 D009216
UMLS 71 C3809482

Summaries for Myopia 23, Autosomal Recessive

OMIM : 56 Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of myopia, see 160700. (615431)

MalaCards based summary : Myopia 23, Autosomal Recessive, is also known as myp23. An important gene associated with Myopia 23, Autosomal Recessive is LRPAP1 (LDL Receptor Related Protein Associated Protein 1). Affiliated tissues include retina and eye, and related phenotypes are visual impairment and increased axial length of the globe

UniProtKB/Swiss-Prot : 73 Myopia 23, autosomal recessive: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far.

Related Diseases for Myopia 23, Autosomal Recessive

Symptoms & Phenotypes for Myopia 23, Autosomal Recessive

Human phenotypes related to Myopia 23, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 increased axial length of the globe 31 HP:0007800
3 reduced visual acuity 31 HP:0007663
4 high myopia 31 HP:0011003

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
decreased visual acuity
increased axial length of globe
myopia, extreme

Clinical features from OMIM:

615431

Drugs & Therapeutics for Myopia 23, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Myopia 23, Autosomal Recessive

Genetic Tests for Myopia 23, Autosomal Recessive

Genetic tests related to Myopia 23, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Myopia 23, Autosomal Recessive 29 LRPAP1

Anatomical Context for Myopia 23, Autosomal Recessive

MalaCards organs/tissues related to Myopia 23, Autosomal Recessive:

40
Retina, Eye

Publications for Myopia 23, Autosomal Recessive

Articles related to Myopia 23, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations in LRPAP1 are associated with severe myopia in humans. 6 56
23830514 2013
2
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. 6
25525168 2014

Variations for Myopia 23, Autosomal Recessive

ClinVar genetic disease variations for Myopia 23, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRPAP1 NM_002337.4(LRPAP1):c.605del (p.Asn202fs)deletion Pathogenic 65460 rs786205127 4:3519907-3519907 4:3518180-3518180
2 LRPAP1 NM_002337.4(LRPAP1):c.863_864del (p.Ile288fs)deletion Pathogenic 65461 rs398122836 4:3516626-3516627 4:3514899-3514900
3 LRPAP1 NM_002337.4(LRPAP1):c.199del (p.Gln67fs)deletion Pathogenic 190230 rs786205216 4:3533941-3533941 4:3532214-3532214

Expression for Myopia 23, Autosomal Recessive

Search GEO for disease gene expression data for Myopia 23, Autosomal Recessive.

Pathways for Myopia 23, Autosomal Recessive

GO Terms for Myopia 23, Autosomal Recessive

Sources for Myopia 23, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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